A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10377865



Internal ID379681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248592354..248595177hg38UCSC Ensembl
Innerchr1:248592357..248595174hg38UCSC Ensembl
Outerchr1:248592351..248595180hg38UCSC Ensembl
chr1:248755655..248758478hg19UCSC Ensembl
Innerchr1:248755658..248758475hg19UCSC Ensembl
Outerchr1:248755652..248758481hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382824
hg192824
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589558
Supporting Variants
SamplesHG02977
Known GenesOR2T10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10377865
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer